Autosomal Dominant Mutations Affecting X Inactivation Choice in the Mouse

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Science  10 May 2002:
Vol. 296, Issue 5570, pp. 1136-1139
DOI: 10.1126/science.1070087

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X chromosome inactivation is the silencing mechanism eutherian mammals use to equalize the expression of X-linked genes between males and females early in embryonic development. In the mouse, genetic control of inactivation requires elements within the X inactivation center (Xic) on the X chromosome that influence the choice of which X chromosome is to be inactivated in individual cells. It has long been posited that unidentified autosomal factors are essential to the process. We have used chemical mutagenesis in the mouse to identify specific factors involved in X inactivation and report two genetically distinct autosomal mutations with dominant effects on X chromosome choice early in embryogenesis.

  • * Present address: Department of Medicine, University of California, San Francisco, CA 94143, USA.

  • To whom correspondence should be addressed. E-mail: bartolom{at} (M.S.B.) and willard{at} (H.F.W.).

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